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This chapter describes a group of inherited symptomatic dystonias; their historical backgrounds, clinical manifestations, pathology and management are discussed. In this chapter Inherited symptomatic dystonias are separated into degenerative, congenital and the large number of metabolic defects that can cause dystonia. Those inherited secondary dystonias classified as degenerative include Pelizaeus-Merzbacher disease and infantile leukodydtrophy with basal ganglia calcification, both of which are discussed in detail in this chapter, with their history, clinical signs and management described....

This chapter describes a group of inherited symptomatic dystonias; their historical backgrounds, clinical manifestations, pathology and management are discussed. In this chapter Inherited symptomatic dystonias are separated into degenerative, congenital and the large number of metabolic defects that can cause dystonia. Those inherited secondary dystonias classified as degenerative include Pelizaeus-Merzbacher disease and infantile leukodydtrophy with basal ganglia calcification, both of which are discussed in detail in this chapter, with their history, clinical signs and management described. Hereditary athetotic hemiplegia is the only congenital disorder addressed, and is thought to be an autosomal dominant trait with incomplete penetrance. Metabolic defects that cause dystonia include disordered copper metabolism (e.g. Wilson’s disease), lipid storage disorders (e.g. Tay-Sach’s disease), carbohydrate disorders and amino and organic acid disorders. The standard clinical presentation is discussed, with many of the disorders presenting with cognitive defects, pyramidal signs, incoordination and ataxia, epilepsy, visual disturbances, neuropathy, hepatosplenomegaly or skeletal lesions.